[HTML][HTML] The apolipoprotein B R3531C mutation: characteristics of 24 subjects from 9 kindreds

CR Pullinger, D Gaffney, MM Gutierrez, MJ Malloy… - Journal of lipid …, 1999 - ASBMB
Familial ligand-defective apolipoprotein B (apoB) is a group of disorders caused by
mutations in the apoB gene. In this report the R3531C mutation is characterized further
using a monoclonal antibody MB19/dynamic laser light scattering technique to measure
ratios of Cys 3531 to normal low density lipoprotein (LDL) particles. All six subjects studied
showed a preferential accumulation of particles carrying the defective apoB allotype. We
determined binding properties of LDL from R3531C heterozygotes by measurement of high …